Endocrine Abstracts

Adrenal carcinomas are rare with a poor prognosis, highlighting the importance of prompt investigation of adrenal incidentalomas. We report a challenging case of an adrenocortical carcinoma secreting steroids in a pattern characteristic of 21-hydroxylase deficiency, which also proved to be a histopathological enigma. A 36-year-old woman underwent investigation for right-sided loin pain. A CT showed an avidly heterogeneously enhancing circumscribed left adrenal mass measuring 65 × 48 × 76 mm with <60% absolute washout, with fat deposition. She was reviewed in the urology clinic, with discussion in the urology MDT. Radiology was felt to be in keeping either with an angiomyolipoma or an adrenal adenoma. The possibility of a phaeochromocytoma was raised. Following clinical and biochemical assessment in the urology clinic, and liaison with the clinical biochemistry team, she was referred to the endocrinology clinic for urgent review prior to left adrenalectomy. She was normotensive and normokalaemic. She had no features of Cushing’s. Plasma and 24-hour urinary metadrenalines, as well as 24-hour urinary cortisol were normal. Grossly elevated levels of testosterone (8.84 nmol/l), 17-hydroxyprogesterone (>300 nmol/l), and androstenedione (63.3 nmol/l) were found. ACTH was elevated at 78 ng/l. She gave a 6 month history of amenorrhoea, severe hirsutism and scalp hair loss. A urinary steroid profile showed significantly elevated levels of 17-hydroxyprogesterone metabolites (11-oxo-pregnanetriol, pregnanetriol and 17-hydroxypregnanolone), which strongly suggested a diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. However, the short history of hyperandrogenism was not consistent with CAH. Following robotic left adrenalectomy, considered complete, her serum biochemistry normalised and symptoms improved. Detailed histology was unable to differentiate clearly between adrenocortical tumour and phaeochromocytoma. A second opinion was sought, identifying the tumour as a phaeochromocytoma, which conflicted with the biochemistry. A third opinion characterised the tumour as an adrenocortical carcinoma. Although she remained very well, unfortunately, a CT scan 7 months post-operatively showed evidence of liver metastases, with left para-aortic and left renal hilar nodal disease. Serum testosterone and 17-hydroxyprogesterone started to rise again. This confirmed that the tumour was a virilising adrenocortical carcinoma with disrupted steroidogenic enzyme expression comparable to 21-hydroxylase deficiency. She was referred for oncology input.